Canonical Allele Identifier: CA612936606
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1566521560
gnomAD v2: 14-23883170-CT-C
gnomAD v4: 14-23413961-CT-C
MyVariant Identifiers: chr14:g.23883171del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413962del , CM000676.2:g.23413962del GRCh38
NC_000014.8:g.23883171del , CM000676.1:g.23883171del GRCh37
NC_000014.7:g.22953011del NCBI36
NG_007884.1:g.26700del , LRG_384:g.26700del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5655+45del MANE Select ENSP00000347507.3:n.5655+45del
ENST00000355349.3:c.5655+45del ENSP00000347507.3:n.5655+45del
NM_000257.3:c.5655+45del NP_000248.2:n.5655+45del
XM_017021340.1:c.5655+45del XP_016876829.1:n.5655+45del
NM_000257.4:c.5655+45del MANE Select NP_000248.2:n.5655+45del
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